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ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.
Gasser M, Boonsimma P, Netbaramee W, Wechapinan T, Srichomthomg C, Ittiwut C, Krenn M, Zimprich F, Milenkovic I, Abicht A, Biskup S, Roser T, Shotelersuk V, Tacke M, Kuersten M, Wagner M, Borggraefe I, Suphapeetiporn K, von Stülpnagel C. Gasser M, et al. Among authors: zimprich f. J Clin Neurosci. 2020 Feb;72:31-38. doi: 10.1016/j.jocn.2020.01.041. Epub 2020 Jan 17. J Clin Neurosci. 2020. PMID: 31959558
Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.
Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F. Krenn M, et al. Among authors: zimprich a, zimprich f. J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19. J Neurol. 2018. PMID: 29260357 Free PMC article.
Adult-onset variant ataxia-telangiectasia diagnosed by exome and cDNA sequencing.
Krenn M, Milenkovic I, Eckstein G, Zimprich F, Meitinger T, Foki T, Wagner M. Krenn M, et al. Among authors: zimprich f. Neurol Genet. 2019 Jun 25;5(4):e346. doi: 10.1212/NXG.0000000000000346. eCollection 2019 Aug. Neurol Genet. 2019. PMID: 31403082 Free PMC article. No abstract available.
Phenotypic variability of GABRA1-related epilepsy in monozygotic twins.
Krenn M, Ernst M, Tomschik M, Treven M, Wagner M, Westphal DS, Meitinger T, Pataraia E, Zimprich F, Aull-Watschinger S. Krenn M, et al. Among authors: zimprich f. Ann Clin Transl Neurol. 2019 Nov;6(11):2317-2322. doi: 10.1002/acn3.50895. Epub 2019 Sep 30. Ann Clin Transl Neurol. 2019. PMID: 31568673 Free PMC article.
Frequency and clinical features of treatment-refractory myasthenia gravis.
Rath J, Brunner I, Tomschik M, Zulehner G, Hilger E, Krenn M, Paul A, Cetin H, Zimprich F. Rath J, et al. Among authors: zimprich f. J Neurol. 2020 Apr;267(4):1004-1011. doi: 10.1007/s00415-019-09667-5. Epub 2019 Dec 11. J Neurol. 2020. PMID: 31828474 Free PMC article.
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom TM, Meitinger T, Zimprich F. Krenn M, et al. Among authors: zimprich a, zimprich f. J Med Genet. 2020 Sep;57(9):624-633. doi: 10.1136/jmedgenet-2019-106658. Epub 2020 Feb 21. J Med Genet. 2020. PMID: 32086284
Testing association of rare genetic variants with resistance to three common antiseizure medications.
Wolking S, Moreau C, Nies AT, Schaeffeler E, McCormack M, Auce P, Avbersek A, Becker F, Krenn M, Møller RS, Nikanorova M, Weber YG, Weckhuysen S, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BPC, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Schwab M, Krause R, Sisodiya SM, Cossette P, Girard SL, Lerche H; EpiPGX Consortium. Wolking S, et al. Among authors: zimprich f. Epilepsia. 2020 Apr;61(4):657-666. doi: 10.1111/epi.16467. Epub 2020 Mar 6. Epilepsia. 2020. PMID: 32141622
Pharmacoresponse in genetic generalized epilepsy: a genome-wide association study.
Wolking S, Schulz H, Nies AT, McCormack M, Schaeffeler E, Auce P, Avbersek A, Becker F, Klein KM, Krenn M, Møller RS, Nikanorova M, Weckhuysen S, Consortium E, Cavalleri GL, Delanty N, Depondt C, Johnson MR, Koeleman BP, Kunz WS, Marson AG, Sander JW, Sills GJ, Striano P, Zara F, Zimprich F, Weber YG, Krause R, Sisodiya S, Schwab M, Sander T, Lerche H. Wolking S, et al. Among authors: zimprich f. Pharmacogenomics. 2020 Apr;21(5):325-335. doi: 10.2217/pgs-2019-0179. Epub 2020 Apr 20. Pharmacogenomics. 2020. PMID: 32308125
Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.
Boonsimma P, Michael Gasser M, Netbaramee W, Wechapinan T, Srichomthong C, Ittiwut C, Wagner M, Krenn M, Zimprich F, Abicht A, Biskup S, Roser T, Borggraefe I, Suphapeetiporn K, Shotelersuk V. Boonsimma P, et al. Among authors: zimprich f. Gene. 2020 Jul 30;749:144709. doi: 10.1016/j.gene.2020.144709. Epub 2020 Apr 25. Gene. 2020. PMID: 32339621
174 results